PAX2 is a transcription factor critical for development of the urogenital tract, eyes, and central nervous system 1. It functions as a sequence-specific DNA-binding transcription factor that regulates gene expression during kidney cell differentiation and metanephric development, with particular importance in ureteric bud morphogenesis and branching 2. PAX2 also suppresses apoptosis and reactive oxygen species production in developing tissues [GO annotations]. Pathogenic PAX2 mutations cause renal coloboma syndrome (papillorenal syndrome), an autosomal dominant condition characterized by optic nerve dysplasia and renal hypodysplasia affecting approximately 50% of clinically suspected cases 34. Mutations can also contribute to congenital abnormalities of the kidney and urinary tract (CAKUT) and are associated with focal segmental glomerulosclerosis (FSGS), where renal dysfunction and proteinuria are more severe in PAX2-mutant patients 15. Additionally, PAX2 loss-of-function is implicated in endometrial intraepithelial neoplasia, with PAX2 aberrant expression detected in 81.1% of cases and useful as a diagnostic marker when combined with PTEN and β-catenin 6. PAX2 mutations are also associated with neurodevelopmental disorders including intellectual disability, epilepsy, and autism spectrum disorders 7.